All are seen in Fragile X syndrome except
Correct Answer: Genomic imprinting
Description: D- Genomic imprinting Fragile X-syndrome is trinucleotide repeat mutation disorder a CGG repeat Features: Enlarged mandible Macro - orchids Large eveed ears Mental retardation Other option B- Genomic imprinting is seen classically in Prader - Willi syndrome & Angelman Syndrome. Prader - Willi Syndrome Angelman Syndrome Deletion of band q.12 on long arm of paternal chromosome 15. Genes in this region of maternal chromosome 15 are already imprinted. - complete loss of functions Deletion of same region form maternal chromosome., paternal genes on ch15 are imprinted MR, Sho-stature, hypotonia, hyperphagia, small hands & feet hypogonadism MR, ataxia seizures inappropriate laughter
Category:
Pathology
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